Table 1.
Overview of advances in implementation of molecular characterisation and its impact on diagnosis, prognosis, follow‐up and treatment choice for major myeloid and lymphoid haematological malignancies
| For diagnosis | For prognosis | For longitudinal follow‐up | Targeted therapies in clinical practice | Impact on survival | |||||
|---|---|---|---|---|---|---|---|---|---|
| Disease entity | In use | Impact | In use | Impact | In use | Impact | In use | Examples | |
| Acute myeloid leukaemia | Yes | Required according to WHO classification | Yes | Improved risk stratification; guides treatment choice | Yes | MRD used to assess treatment response and identify treatment failure and relapse | Yes |
FLT3‐inhibitors IDH1/2‐inhibitors Anti‐CD33 antibody‐drug conjugate BCL2‐inhibitor |
Yes |
| Chronic myeloid leukaemia | Yes | Required according to WHO classification | Yes | Provides information regarding TKI resistance | Yes | MRD used to assess treatment response and identify treatment failure and relapse | Yes | TK‐inhibitors | Yes |
| Myelodysplastic syndrome | Yes | Required according to WHO classification | Yes | Improved risk stratification; guides treatment choice | Yes | MRD used to assess treatment response and identify treatment failure and relapse | Yes |
BCL2‐inhibitor Luspatercept Lenalidomide |
Yes |
| Myeloproliferative neoplasms | Yes | Required according to WHO classification | Yes | Improved risk stratification | No | Not yet in clinical practice | Yes | JAK2‐inhibitor | Yes |
| Chronic lymphocytic leukaemia | No | Not yet used in clinical practice for diagnosis but necessary for risk stratification | Yes | Improved risk stratification; guides treatment choice | Yes | Longitudinal addition of genetic alterations guides subsequent treatment choice | Yes |
BTK‐inhibitors, BCL2‐inhibitor, |
Yes |
| Acute lymphoblastic leukaemia | Yes | Improved diagnosis and of help to differentiate between ALL, AML and mixed phenotype leukaemia | Yes | Improved risk stratification | Yes | MRD used to assess treatment response and identify treatment failure and relapse | Yes |
CD19/CD3 BiTes Anti‐CD22 antibody‐drug conjugate TK‐inhibitors |
Yes |
| Aggressive lymphomas | Yes |
Identification of double‐hit lymphomas. Can help guide diagnosis in unclear cases |
Yes | Improved risk stratification; granular Diffuse large B‐cell lymphoma classifications underway using genetic alterations | No | Not yet used in clinical practice | Yes |
CD79‐antibody BTK‐inhibitor |
Yes |
| Mantle cell lymphoma | Yes | Presence of genetic aberrations function as diagnostic criteria (t[11;14], SOX11) | Yes | Improved risk stratification (TP53‐mutation) | No | MRD to guide follow‐up is being evaluated in clinical trials | Yes |
BTK‐inhibitors BCL2‐inhibitor |
Yes |
| Hairy cell leukaemia | Yes | Presence of genetic aberrations function as diagnostic criteria (BRAFV600E) | No | Not yet in clinical practice | No | Not yet in clinical practice | Yes | BRAF‐inhibitor | Yes |
| Waldenström macroglobulinemia | Yes | Presence of genetic aberrations function as diagnostic criteria (MYD88) | Yes | Can help guide response to BTK‐inhibitor (MYD88, CXCR4) | No | Not yet in clinical practice | Yes | BTK‐inhibitor | Yes |
| Follicular lymphoma | Yes | Presence of genetic aberrations function as diagnostic criteria (t[14;18]) | No | Not yet in clinical practice | No | Not yet in clinical practice | Yes | P13K‐inhibitor | Yes |
Abbreviations: ALL, acute lymphoblastic leukaemia; AML, acute myeloid leukaemia; MRD, minimal residual disease; TKI, tyrosine‐kinase inhibitor; WHO, World Health Organisation.